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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-100398054-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=100398054&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 100398054,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004854.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "NM_004854.5",
"protein_id": "NP_004845.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264249.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004854.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000264249.8",
"protein_id": "ENSP00000264249.3",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004854.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264249.8"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000409701.5",
"protein_id": "ENSP00000387309.1",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409701.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Asp115Gly",
"transcript": "ENST00000972083.1",
"protein_id": "ENSP00000642142.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 377,
"cds_start": 344,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972083.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000866824.1",
"protein_id": "ENSP00000536883.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866824.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000866825.1",
"protein_id": "ENSP00000536884.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866825.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000866826.1",
"protein_id": "ENSP00000536885.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866826.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000866827.1",
"protein_id": "ENSP00000536886.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866827.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000866828.1",
"protein_id": "ENSP00000536887.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866828.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000866829.1",
"protein_id": "ENSP00000536888.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866829.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000866831.1",
"protein_id": "ENSP00000536890.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866831.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000866832.1",
"protein_id": "ENSP00000536891.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866832.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000866833.1",
"protein_id": "ENSP00000536892.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866833.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000933567.1",
"protein_id": "ENSP00000603626.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933567.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000933568.1",
"protein_id": "ENSP00000603627.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933568.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000933569.1",
"protein_id": "ENSP00000603628.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933569.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000933570.1",
"protein_id": "ENSP00000603629.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933570.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000933571.1",
"protein_id": "ENSP00000603630.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933571.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000933572.1",
"protein_id": "ENSP00000603631.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933572.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000933573.1",
"protein_id": "ENSP00000603632.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933573.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000933574.1",
"protein_id": "ENSP00000603633.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933574.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "ENST00000933575.1",
"protein_id": "ENSP00000603634.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 356,
"cds_start": 281,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933575.1"
},
{
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "CHST10",
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"transcript": "XM_047446436.1",
"protein_id": "XP_047302392.1",
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"aa_start": 94,
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"aa_length": 356,
"cds_start": 281,
"cds_end": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446436.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "CHST10",
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"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "XM_047446437.1",
"protein_id": "XP_047302393.1",
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446437.1"
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
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"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly",
"transcript": "XM_047446438.1",
"protein_id": "XP_047302394.1",
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446438.1"
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "CHST10",
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"hgvs_c": "c.425A>G",
"hgvs_p": "p.Asp142Gly",
"transcript": "ENST00000448989.5",
"protein_id": "ENSP00000387977.1",
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"aa_start": 142,
"aa_end": null,
"aa_length": 141,
"cds_start": 425,
"cds_end": null,
"cds_length": 427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448989.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 4,
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"gene_symbol": "CHST10",
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"hgvs_c": "n.373A>G",
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"transcript": "ENST00000484382.5",
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"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000484382.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"hgvs_c": "c.*26A>G",
"hgvs_p": null,
"transcript": "ENST00000421474.5",
"protein_id": "ENSP00000407525.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": null,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421474.5"
}
],
"gene_symbol": "CHST10",
"gene_hgnc_id": 19650,
"dbsnp": "rs1323266268",
"frequency_reference_population": 0.0000020521577,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205216,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2922254800796509,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.138,
"revel_prediction": "Benign",
"alphamissense_score": 0.1155,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004854.5",
"gene_symbol": "CHST10",
"hgnc_id": 19650,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asp94Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}